Canonical Allele Identifier: CA2678079026

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969732-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969732C>A , CM000668.2:g.31969732C>A	GRCh38
NC_000006.11:g.31937509C>A , CM000668.1:g.31937509C>A	GRCh37
NC_000006.10:g.32045488C>A	NCBI36
NG_032652.1:g.15929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2806C>A	ENSP00000419905.1:n.*2806C>A
ENST00000494058.6:n.4060C>A
ENST00000697831.1:c.*17C>A	ENSP00000513453.1:n.*17C>A
ENST00000697832.1:n.3911C>A
ENST00000697835.1:c.*3276C>A	ENSP00000513455.1:n.*3276C>A
ENST00000697837.1:c.*874C>A	ENSP00000513456.1:n.*874C>A
ENST00000697838.1:c.*17C>A	ENSP00000513457.1:n.*17C>A
ENST00000697840.1:c.*17C>A	ENSP00000513458.1:n.*17C>A
ENST00000697842.1:n.4013C>A
ENST00000375394.7:c.*17C>A MANE Select	ENSP00000364543.2:n.*17C>A
ENST00000375394.6:c.*17C>A	ENSP00000364543.2:n.*17C>A
ENST00000465703.5:n.4488C>A
ENST00000471818.1:n.687C>A
ENST00000474839.5:c.*3130C>A	ENSP00000420470.1:n.*3130C>A
ENST00000483553.5:c.1288C>A
ENST00000491994.1:c.847C>A
NM_006929.4:c.*17C>A	NP_008860.4:n.*17C>A
XR_926301.3:n.3774C>A
NM_006929.5:c.*17C>A MANE Select	NP_008860.4:n.*17C>A